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Use of Targeted Exome Sequencing in Genetic Diagnosis of Chinese Familial Hypercholesterolemia
Familial hypercholesterolemia is an autosomal dominant inherited disease characterized by elevated plasma low-density lipoprotein cholesterol (LDL-C). It is mainly caused by mutations of the low-density lipoprotein receptor (LDLR) gene. Currently, the methods of whole genome sequencing or whole exom...
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| Hlavní autoři: | , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Public Library of Science
2014
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3983231/ https://ncbi.nlm.nih.gov/pubmed/24722143 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0094697 |
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